ArticleJournal of visualized experiments : JoVE2018
Rare Event Detection Using Error-corrected DNA and RNA Sequencing.
Article in Journal of visualized experiments : JoVE, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Clonal Hematopoiesis in Clinical and Experimental Heart Failure With Preserved Ejection Fraction.Circulation · 2023Article
- Liquid Biopsy for Lung Cancer: Up-to-Date and Perspectives for Screening Programs.International journal of molecular sciences · 2023Review
- Review
- Clonal Hematopoiesis Analyses in Clinical, Epidemiologic, and Genetic Aging Studies to Unravel Underlying Mechanisms of Age-Related Dysfunction in Humans.Frontiers in aging · 2022Review
- Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples.Genomics & informatics · 2020Article
- Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation.Science translational medicine · 2020Article
- Sequencing-Based Measurable Residual Disease Testing in Acute Myeloid Leukemia.Frontiers in cell and developmental biology · 2020Review
- Minimal Residual Disease Monitoring with Next-Generation Sequencing Methodologies in Hematological Malignancies.International journal of molecular sciences · 2019Review
- Next-generation sequencing in the diagnosis and minimal residual disease assessment of acute myeloid leukemia.Haematologica · 2019Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Conventional next-generation sequencing techniques (NGS) have allowed for immense genomic characterization for over a decade. Specifically, NGS has been used to analyze the spectrum of clonal mutations in malignancy. Though far more efficient than traditional Sanger methods, NGS struggles with identifying rare clonal and subclonal mutations due to its high error rate of ~0.5-2.0%. Thus, standard NGS has a limit of detection for mutations that are >0.02 variant allele fraction (VAF). While the clinical significance for mutations this rare in patients without known disease remains unclear, patients treated for leukemia have significantly improved outcomes when residual disease is <0.0001 by flow cytometry. In order to mitigate this artefactual background of NGS, numerous methods have been developed. Here we describe a method for Error-corrected DNA and RNA Sequencing (ECS), which involves tagging individual molecules with both a 16 bp random index for error-correction and an 8 bp patient-specific index for multiplexing. Our method can detect and track clonal mutations at variant allele fractions (VAFs) two orders of magnitude lower than the detection limit of NGS and as rare as 0.0001 VAF.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.